ICNC Abstracts, ICNC 2018

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Clinical and genetic analysis in three Chinese patients with congenital disorder of glycosylation
Changhong Ren, Fang Fang, Changhong Ding

Last modified: 2018-09-09

Abstract


Objective:  To investigate the clinical and genetic features of congenital disorders of glycosylation in China.  Methods: We retrospectively collected the clinical date of three Chinese patients who were clinical diagnosed as CDG at neurology department of Beijing Children’s Hospital.  Results: There are two PMM2-CDG and one COG6-CDG. (1)Two PMM2-CDG patients were both female, aged 1y1m and 8m respectively. The main clinical features of two cases were developmental delay since born, chronic diarrhea and metabolic acidosis, associated with serum transaminases elevated, antithrombin III activity decreased. Physical examination showed esotropia, inverted nipples, and abnormal subcutaneous fat pads. The cranial MRI showed cerebellar atrophy. Both two cases were treated by occupational therapy, physical therapy and speech therapy. The development was gradually improved but also delay than peers followed to 3 years old. Genetic analysis showed that patient 1 was compound heterozygous for c.422G>A(p.Arg141His), was reported for known pathogenic mutation, and c.669C>A(p.Asp223Glu), was new mutations. The patient 2 showed compound heterozygous for c.634A>G (p.Met212Val) and c.713G>C(p.Arg238Pro), were both new mutations. (2) One COG6-CDG patient was a boy of 11 years old. The main clinical feature was developmental delay and hypohidrosis since born. The physical examination showed the toes were small and the cranial MRI had no specific changes. Genetic analysis showed compound heterozygous for c.1167-24A>G(p.G390Ffs*6), was reported for known pathogenic mutation, and c.1263delT(p.H421Qfs*5).Conclusions: CDG is a rare metabolic disease,different gene mutations have different clinical manifestations. For suspected cases, completing genetic testing can help to confirm the diagnosis.

Keywords


congenital disorder of glycosylation;PMM2;ALG1

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