Clinical and mutation analysis of a case of Noonan-like syndrome with loose anagen hair / 中华皮肤科杂志

To report a case of Noonan-like syndrome with loose anagen hair, and to detect gene mutations in the family. A 3-year-old female patient presented with a special facial appearance, short stature, deep palmar and plantar creases, and dark skin. The scalp hair was sparse and thin, dermoscopy showed black spot sign, single-hair follicular units, hair shafts varying in the diameter, upright hair and new vellus hair, and constriction of hair shafts and nodular hair were occasionally observed. Peripheral blood samples were collected from the proband and her parents, and the genomic DNA was extracted for whole-exome sequencing. A heterozygous missense mutation c.4A>G was identified in exon 2 of the SHOC2 gene in the proband, resulting in the substitution of serine by glycine at amino acid position 2 (p.S2G) . The mutation was not identified in either of her parents. Combined with the clinical phenotype and gene mutation, the diagnosis of Noonan-like syndrome with loose anagen hair was confirmed.

Noonan syndrome caused by mutation of SHOC2 gene: a case report / 临床儿科杂志

Objective To investigate the clinical phenotype and molecular diagnosis of Noonan syndrome (NS) caused by mutations in SHOC2 gene. Methods The clinical data and gene testing results of one child with NS were analyzed retrospectively. Results This is an 8-month-old infant. Since birth, the boy had feeding and sleeping difficulties, irritability, and growth retardation. The boy had large head circumference, sparse, thin and yellow hair, broad and prominent forehead, flat nose, slightly wide eye distance, and slightly bilateral eye fissure outward tilt, no eyelid ptosis. Echocardiography showed patent foramen ovale,ventricular septum and left ventricular hypertrophy.A novel mutation(De novo)was found in the SHOC2 gene, heterozygous missense mutation c.4A>G, p.Ser2Gly His parents were normal genotypes. According to the clinical characteristics, relevant literature was reviewed. The clinical manifestation of sleep difficulty has not been reported in the NS patients with SHOC2 mutation.Conclusions This is the first domestic reported NS case with SHOC2 mutation.The phenotype is consistent with the foreign reports.Sleep difficulty may be a new phenotype of NS with SHOC2 mutation.