KEGG DISEASE: Lamb-Shaffer syndrome

DISEASE: Lamb-Shaffer syndrome

Entry

H02156                      Disease

Name

Lamb-Shaffer syndrome;
12p12.1 microdeletion syndrome

Description

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused by haploinsufficiency of SOX5 at 12p12.1. SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.

Category

Chromosomal abnormality

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H02156  Lamb-Shaffer syndrome

Gene

SOX5 [HSA:6660] [KO:K09269]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:22290657

Authors

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG

Title

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Journal

Hum Mutat 33:728-40 (2012)
DOI:10.1002/humu.22037

Reference

PMID:29477873

Authors

Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N

Title

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

Journal

Gene 655:65-70 (2018)
DOI:10.1016/j.gene.2018.02.049

Reference

PMID:26111154

Authors

Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A

Title

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Journal

Am J Med Genet A 167A:2548-54 (2015)
DOI:10.1002/ajmg.a.37221

LinkDB

» Japanese version

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