A Child with Diminished Linear Growth and Waddling Gait

Tamaro, G.; Pederiva, Federica; Dibello, Daniela; Gregori, Massimo; Carbone, M.; Pantaleoni, Francesca; Dentici, Maria Lisa; Niceta, Marcello; Barbi, Egidio

doi:10.1016/j.jpeds.2018.04.007

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2019

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“…It has been reported that pain of lower limbs is the first presented symptom (Gamble, Nguyen, Hashmi, & Hecht, 2015). Similar to our research, another article also reveals that abnormal gait is the most significant clinical finding (Tamaro, Pederiva, Dibello, et al, 2018). The development appears normal during the first 12 to 18 months of life.…”

Section: Discussionsupporting

confidence: 88%

A Chinese Family with Pseudoachondroplasia Caused by <i>COMP</i> Gene Mutation

Han¹,

Wang²,

Yan³

et al. 2019

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Pseudoachondroplasia (PSACH; MIM 177170) is a rare disease which was characterized by disproportionate short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. It is an autosomal dominant osteochondrodysplasia presented in childhood, and usually resolved with age, but osteoarthritis is progressive and severe. Genetic testing using the whole exome sequencing and Sanger sequencing was performed for the patients, a 30-year-old woman and her affected son, who is only 8 years old. A heterozygous mutationin exon 15 of COMP (c.1675G > A, p.Glu559Lys, NM 000095.2) was identified. The Polyphen-2 predicted that the mutation may damage the COMP protein function. This study suggested that the heterozygous mutations in COMP were responsible for PSACH and demonstrated the genotype-phenotype relationship between mutations in COMP and clinical characteristics of PSACH.

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Section: Discussionsupporting

confidence: 88%