CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome.
CREBBP基因突变所致Rubinstein-Taybi综合征1例.
CREBBP gene
Rubinstein-Taybi syndrome
de Novo mutation
inguinal hernia
the two generation sequencing technology
Journal
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
ISSN: 1672-7347
Titre abrégé: Zhong Nan Da Xue Xue Bao Yi Xue Ban
Pays: China
ID NLM: 101230586
Informations de publication
Date de publication:
28 Feb 2020
28 Feb 2020
Historique:
entrez:
10
5
2020
pubmed:
10
5
2020
medline:
18
7
2020
Statut:
ppublish
Résumé
Rubinstein-Taybi syndrome (RSTS), also known as broad thumb-great toe syndrome or broad digits syndrome, is a rare autosomal dominant genetic disease. The main features of the patients are craniofacial dysmorphisms, skeletal malformations, and delay of growth and psychomotor development. In this case, the child has a typical RSTS specific face and growth retardation, with atypical indirect inguinalhemia. A heterozygous mutation, C. 4492 C>T (p. Arg1498Ter), was found in the exon of CREBBP gene by gene sequencing. It was a nonsense mutation, which leads to the premature termination of peptide synthesis. The mutation was not observed in the child's parents, which may be a Rubinstein-Taybi综合征(Rubinstein-Taybi syndrome，RSTS) 又称宽拇指巨趾综合征(broad thumb-great toe syndrome)、巨指(趾)综合征(broad digits syndrome)，是一类罕见的常染色体显性遗传病。患者的主要特征为颅面畸形、骨骼畸形、生长延迟和精神及运动发育迟缓。本例患儿具有典型的RSTS特殊面容及生长迟滞，合并不典型的腹股沟斜疝。二代测序技术基因结果显示：患儿的16号染色体CREBBP基因外显子上存在1个杂合突变位点c.4492C>T(p. Arg1498Ter)，且为无义突变，使得肽链合成提前终止。受检者父母未发现上述变异，该变异可能为新生突变。本病目前尚无特异性治疗方法。.
Autres résumés
Type: Publisher
(chi)
Rubinstein-Taybi综合征(Rubinstein-Taybi syndrome，RSTS) 又称宽拇指巨趾综合征(broad thumb-great toe syndrome)、巨指(趾)综合征(broad digits syndrome)，是一类罕见的常染色体显性遗传病。患者的主要特征为颅面畸形、骨骼畸形、生长延迟和精神及运动发育迟缓。本例患儿具有典型的RSTS特殊面容及生长迟滞，合并不典型的腹股沟斜疝。二代测序技术基因结果显示：患儿的16号染色体CREBBP基因外显子上存在1个杂合突变位点c.4492C>T(p. Arg1498Ter)，且为无义突变，使得肽链合成提前终止。受检者父母未发现上述变异，该变异可能为新生突变。本病目前尚无特异性治疗方法。.
Identifiants
pubmed: 32386048
pii: 1672-7347(2020)02-0198-06
doi: 10.11817/j.issn.1672-7347.2020.180770
pii:
doi:
Substances chimiques
Codon, Nonsense
0
CREB-Binding Protein
EC 2.3.1.48
CREBBP protein, human
EC 2.3.1.48
Types de publication
Case Reports
Langues
eng
chi
Sous-ensembles de citation
IM
Pagination
198-203Subventions
Organisme : the New Xiangya Talent Project of the Third Xiangya Hospital of Central South University, China
ID : JY201524
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