Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Overgrowth

Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.


Total: 41

                       


(per page)
PMID (PMCID)
29383847
 FEMALE
Growth pattern of Rahman syndrome.
Takenouchi T, Uehara T, Kosaki K, Mizuno S.
Am J Med Genet A. 2018;176(3):712-714.
This "lack of overgrowth in overgrowth syndrome" is reminiscent of a subset of patients with a short stature who have Sotos syndrome, a prototypic overgrowth syndrome.
29528771
 MALE Adult
Lethal fat embolism complicating Sotos syndrome.
Gilbert JD, Byard RW.
Med Sci Law. 2018;58(2):119-121.
Sotos syndrome is a rare congenital syndrome caused by deletions or mutations in the NSD1 gene (chromosome 5q35) which results in overgrowth.
29164086
(5681921)
 OTHER
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.
Laccetta G, Moscuzza F, Michelucci A, Guzzetta A, Lunardi S, Lorenzoni F, Ghirri P.
Front Pediatr. 2017;5:236.
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.
29164086
(5681921)
 OTHER
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.
Laccetta G, Moscuzza F, Michelucci A, Guzzetta A, Lunardi S, Lorenzoni F, Ghirri P.
Front Pediatr. 2017;5:236.
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35.
28457852
 MIXED_SAMPLE Child
Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.
Han JY, Lee IG, Jang W, Shin S, Park J, Kim M.
Clin Chim Acta. 2017;470:31-35.
Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability.
26193383
 MIXED_SAMPLE Infant
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Gurrieri F, Cavaliere ML, Wischmeijer A, Mammi C, Neri G, Pisanti MA, Rodella G, Lagana C, Priolo M.
Eur J Med Genet. 2015;58(9):488-91.
The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome.
26193383
 MIXED_SAMPLE Infant
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Gurrieri F, Cavaliere ML, Wischmeijer A, Mammi C, Neri G, Pisanti MA, Rodella G, Lagana C, Priolo M.
Eur J Med Genet. 2015;58(9):488-91.
The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations.
24819041
 MIXED_SAMPLE Middle Aged
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R.
Am J Med Genet A. 2014;164A(8):2084-90.
NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype.
24670087
 MALE Infant, Newborn
Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.
Mutsaers HA, Levtchenko EN, Martinerie L, Pertijs JC, Allegaert K, Devriendt K, Masereeuw R, Monnens LA, Lombes M.
J Clin Endocrinol Metab. 2014;99(7):E1361-7.
Sotos syndrome is a rare genetic disorder with a distinct phenotypic spectrum including overgrowth and learning difficulties.
24192683
 MALE Child
A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.
Klc E, Utine GE, Boduroglu K.
Turk J Pediatr. 2013;55(2):207-9.
Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype.
23341071
 MALE
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
Castronovo C, Rusconi D, Crippa M, Giardino D, Gervasini C, Milani D, Cereda A, Larizza L, Selicorni A, Finelli P.
Am J Med Genet A. 2013;161A(3):611-8.
Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive facial features, and developmental delay, arises from mutations and deletions of the NSD1 gene at 5q35.3.
23406665
 MIXED_SAMPLE Adult
Ectopic thymoma can mimic benign and malignant thyroid lesions on fine needle aspiration cytology: a case report and literature review.
Taweevisit M, Sampatanukul P, Thorner PS.
Acta Cytol. 2013;57(2):213-20.
The authors report such a case occurring in a patient with Sotos syndrome, a genetic disorder characterized by somatic overgrowth and cognitive impairment.
23369838
 FEMALE Child
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.
ilina O, Reimand T, Tammur P, Tillmann V, Kurg A, Ounap K.
Eur J Med Genet. 2013;56(4):202-6.
Deletions in this locus lead to Sotos syndrome characterized by childhood overgrowth with advanced bone age, craniofacial dysmorphic features including macrocephaly, and learning difficulties; while duplications have been proposed to manifest in opposite phenotype related to growth.
23913520
 MIXED_SAMPLE Child
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U.
Am J Med Genet A. 2013;161A(9):2158-66.
Loss-of-function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID).
21204797
 MIXED_SAMPLE Infant
19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.
Lehman AM, du Souich C, Chai D, Eydoux P, Huang JL, Fok AK, Avila L, Swingland J, Delaney AD, McGillivray B, Goldowitz D, Argiropoulos B, Kobor MS, Boerkoel CF.
Clin Genet. 2012;81(1):56-63.
We conclude that microduplication of 19p13.2 is a novel genomic disorder characterized by variable neurocognitive disability, overgrowth, and facial dysmorphism similar to Sotos syndrome.
22301465
 MIXED_SAMPLE Child
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N.
J Hum Genet. 2012;57(3):207-11.
Sotos syndrome is characterized by prenatal and postnatal overgrowth, characteristic craniofacial features and mental retardation.
22679258
 MALE
A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?
Baynam G, Schofield L, Goldblatt J.
BMJ Case Rep. 2011;2011:.
In accordance with interrelationships between tumour predisposition and somatic overgrowth, the authors present a boy with a familial serine threonine kinase 11 (STK11) mutation and Sotos syndrome-like features.
21834047
 MIXED_SAMPLE Adult
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE.
Am J Med Genet A. 2011;155A(9):2105-11.
Sotos syndrome is a well-described multiple anomaly syndrome characterized by overgrowth, distinctive craniofacial appearance, and variable learning disabilities.
21998857
 FEMALE
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kuinskien ZA, Hettinger JA, Sismani C, Patsalis PC, Kuinskas V.
Am J Med Genet A. 2011;155A(10):2501-7.
We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication.
21998857
 FEMALE
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kuinskien ZA, Hettinger JA, Sismani C, Patsalis PC, Kuinskas V.
Am J Med Genet A. 2011;155A(10):2501-7.
We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication.