Blepharophimosis-intellectual disability syndrome, SBBYS type

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(30.8%)		 26334766
 A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G.
Am J Med Genet A. 2015;167A(12):3006-10.
Blepharophimosis
KAT6B
c|SUB|G|3147|A p|SUB|P|1049|P rs199470477
Blepharophimosis Child Child, Preschool Congenital Heart Defects Congenital Hypothyroidism Facies Females Homo sapiens Intellectual Disability Joint Instability Male Mutation Pregnancy RNA Splice Sites RNA Splicing
1
(30.8%)		 23436491
 De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
Szakszon K, Salpietro C, Kakar N, Knegt AC, Olah E, Dallapiccola B, Borck G.
Am J Med Genet A. 2013;161A(4):884-8.
Hearing impairment Blepharophimosis
KAT6B
rs199470477 rs199470484 rs387907364
Base Sequence Blepharophimosis Child, Preschool Congenital Heart Defects Congenital Hypothyroidism Exons Facies Females Genetic Association Studies Heterozygote Homo sapiens Infant Intellectual Disability Joint Instability Male Mutation Phenotype
3
(4.0%)		 29226580
 A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M.
Am J Med Genet A. 2018;176(2):455-459.
Intellectual disability
KAT6B
rs199470477
Alleles Blepharophimosis Child Congenital Heart Defects Congenital Hypothyroidism Craniofacial Abnormalities Exons Facies Females Genetic Association Studies Haploinsufficiency Homo sapiens Intellectual Disability Joint Instability Kidney Mutation Patella Phenotype Psychomotor Disorders Scrotum Urogenital Abnormalities
3
(4.0%)		 28710305
 Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome.
Merritt J, Hart JC, LeGrow TL.
BMJ Case Rep. 2017;2017:.
Hearing abnormality
Autism Spectrum Disorders Blepharophimosis Child, Preschool Congenital Heart Defects Congenital Hypothyroidism Differential Diagnosis Facies Homo sapiens Intellectual Disability Joint Instability Male Self-Injurious Behavior
3
(4.0%)		 28426343
 De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.
Li G, Li N, Li J, Ding Y, Yu T, Wang X, Wang J.
Fetal Pediatr Pathol. 2017;36(2):130-138.
Decreased response to growth hormone stimuation test
KAT6B
c|SUB|T|2636|A p|SUB|L|879|X
Blepharophimosis Child, Preschool Codon, Nonsense Congenital Heart Defects Congenital Hypothyroidism Craniofacial Abnormalities Exons Facies Homo sapiens Intellectual Disability Joint Instability Kidney Male Mutation Patella Phenotype Psychomotor Disorders Scrotum Urogenital Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 43

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000269 Prominent occiput Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000340 Sloping forehead Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000414 Bulbous nose Very frequent (99-80%)
HP:0000448 Prominent nose Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0000821 Hypothyroidism Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0003189 Long nose Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0012745 Short palpebral fissure Very frequent (99-80%)
HP:0000176 Submucous cleft hard palate Frequent (79-30%)
HP:0000193 Bifid uvula Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0002205 Recurrent respiratory infections Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004426 Abnormality of the cheek Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0005990 Thyroid hypoplasia Frequent (79-30%)
HP:0006695 Atrioventricular canal defect Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0008188 Thyroid dysgenesis Frequent (79-30%)
HP:0008191 Thyroid agenesis Frequent (79-30%)
HP:0009738 Abnormality of the antihelix Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0100028 Ectopic thyroid Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000614 Abnormal nasolacrimal system morphology Occasional (29-5%)
HP:0100648 Neoplasm of the tongue Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000364 Hearing abnormality 1
HP:0001249 Intellectual disability 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
KAT6B lysine acetyltransferase 6B 23522