KEGG DISEASE: Blepharophimosis-mental retardation syndrome

KEGG

DISEASE: Blepharophimosis-mental retardation syndrome

Entry

H01795                      Disease

Name

Blepharophimosis-mental retardation syndrome;
Ohdo syndrome

Subgroup

3p- syndrome
Young-Simpson syndrome (SBBYS) [DS:H01793]
X-linked Ohdo syndrome (OHDOX)

Description

Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. The majority of syndromic patients with blepharophimosis show a variable degree of mental retardation. In 1986, Ohdo et al. delineated a syndrome of blepharophimosis, ptosis, hypoplastic teeth, heart defect, and mental handicap, to which his name was attached. Subsequently, several cases have been reported as Ohdo/Ohdo-like syndrome, widening the spectrum of clinical findings of BMRS, which lately were classified into five subtypes by Verloes et al: (1) del(3p) syndrome; (2) BMRS, Ohdo type; (3) BMRS, SBBYS (Say-Barber/Biesecker/Young-Simpson) type [DS:H01793]; (4) BMRS, MKB (Maat-Kievit-Brunner) type/ X-linked Ohdo syndrome (OHDOX); (5) BMRS, Verloes type. BMR may also be found in relatively nonspecific developmental anomalies and in unclassified individuals, further widening the etiology of BMR disorders.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01795  Blepharophimosis-mental retardation syndrome

Gene

(SBBYS) KAT6B [HSA:23522] [KO:K11306]
(OHDOX) MED12 [HSA:9968] [KO:K15162]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P

Title

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Journal

Am J Med Genet A 140:1285-96 (2006)
DOI:10.1002/ajmg.a.31270

Reference

Authors

Dentici ML, Mingarelli R, Dallapiccola B

Title

The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.

Journal

Am J Med Genet A 155A:459-65 (2011)
DOI:10.1002/ajmg.a.33642

Reference

Authors

Malmgren H, Sahlen S, Wide K, Lundvall M, Blennow E

Title

Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review.

Journal

Am J Med Genet A 143A:2143-9 (2007)
DOI:10.1002/ajmg.a.31902

Reference

PMID:22077973 (SBBYS)

Authors

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G

Title

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Journal

Am J Hum Genet 89:675-81 (2011)
DOI:10.1016/j.ajhg.2011.10.008

Reference

PMID:23395478 (OHDOX)

Authors

Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP

Title

Mutations in MED12 cause X-linked Ohdo syndrome.

Journal

Am J Hum Genet 92:401-6 (2013)
DOI:10.1016/j.ajhg.2013.01.007

LinkDB

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