Cornelia de Lange syndrome

TY - JOUR

T1 - Cornelia de Lange syndrome

AU - Boyle, M I

AU - Jespersgaard, C

AU - Brøndum-Nielsen, K

AU - Bisgaard, A-M

AU - Tümer, Z

N1 - © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2015/7/1

Y1 - 2015/7/1

N2 - Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric stenosis, diaphragmatic hernia, heart defects and genitourinary malformations. Gastroesophageal reflux disease is present in almost all patients. In addition to classic forms, milder phenotypes have been reported. To date five genes [NIPBL (Nipped-B-like protein), SMC1A (structural maintenance of chromosomes 1A), SMC3 (structural maintenance of chromosomes 3), RAD21 (human homolog of Schizosaccharomyces pombe radiation sensitive mutant 21) and HDAC8 (histone deacetylase 8)] have been associated with CdLS and mutations of these genes comprise the underlying defect in 70% of the patients. Here, we will provide a brief review of the clinical features of CdLS, summarize the known underlying genetic defects, prenatal and postnatal diagnosis possibilities, and genetic counseling.

AB - Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric stenosis, diaphragmatic hernia, heart defects and genitourinary malformations. Gastroesophageal reflux disease is present in almost all patients. In addition to classic forms, milder phenotypes have been reported. To date five genes [NIPBL (Nipped-B-like protein), SMC1A (structural maintenance of chromosomes 1A), SMC3 (structural maintenance of chromosomes 3), RAD21 (human homolog of Schizosaccharomyces pombe radiation sensitive mutant 21) and HDAC8 (histone deacetylase 8)] have been associated with CdLS and mutations of these genes comprise the underlying defect in 70% of the patients. Here, we will provide a brief review of the clinical features of CdLS, summarize the known underlying genetic defects, prenatal and postnatal diagnosis possibilities, and genetic counseling.

KW - Cell Cycle Proteins

KW - Child, Preschool

KW - Chondroitin Sulfate Proteoglycans

KW - Chromosomal Proteins, Non-Histone

KW - De Lange Syndrome

KW - Female

KW - Histone Deacetylases

KW - Humans

KW - Male

KW - Mutation

KW - Nuclear Proteins

KW - Phenotype

KW - Phosphoproteins

KW - Proteins

KW - Repressor Proteins

U2 - 10.1111/cge.12499

DO - 10.1111/cge.12499

M3 - Journal article

C2 - 25209348

SN - 0009-9163

VL - 88

SP - 1

EP - 12

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

M1 - 12499

ER -