Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2.
- Author:
Guoying CHANG
1
,
2
;
Yunfang ZHOU
;
Lei YIN
;
Longjun GU
;
Daming YING
;
Huijin CHEN
;
Xiumin WANG
;
Jian WANG
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(4):527-530
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze clinical manifestations and genetic mutation in a child with severe short stature and other malformations.
METHODSThe child has undergone history taking and physical examination. Genome DNA was extracted from peripheral blood samples of the proband and her family members. Candidate genes were captured with Agilent SureSelect and sequenced on an Illumina platform. Suspected mutation was verified by Sanger sequencing.
RESULTSThe patient, a six-year-and-10-month old girl, presented with non-symmetrical short stature, dysmorphism, abnormalities of limbs and spine, amblyopia of left eye, and cataract of right eye, in addition with frequent respiratory infection and micturition. Laboratory testing suggested 25-hydroxy vitamin D deficiency (18.9 ng/mL). Spine X-ray showed multiple malformations with centrums. Her mother also featured short stature (138 cm). Her aunt had short stature (130 cm) and limb-length discrepancy. Her little brother was 2.5 years old, and his height was 81 cm (-3.4 SD). Exome sequencing revealed a heterozygous mutation c.184C to T (p.Arg62Trp) in the proband and her mother. The same mutation was not found in her father and brother.
CONCLUSIONThe patient was diagnosed with X-linked chondrodysplasia punctata 2. Mutation of the EBP gene probably underlied the disease in this family.