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1 National Institute of Immunohematology (Indian Council of Medical Research), K.E.M Hospital Campus, Parel, Mumbai-40012, India 2 Sri Ramchandra Medical College and Research Institute Porur, Chennai-600116 Tamilnadu, India 3 Dept. of Medical Oncology, Amrita Institute of Medical Sciences, Edappally, Kochi-682041 Kerala India Corresponding Author Dr Prabhakar S Kedar, PhD Scientist D, National Institute of Immunohaematology, Indian Council of Medical Research 13 th Floor, New Multistoried Building, K.E.M Hospital Campus, Parel, Mumbai 400012, India Tel: + 9122 24138518, Fax: + 9122 24138521, Email: kedarps2002@yahoo.com Abstract Deficiency of NADH-cytochrome b5 reductase is the rare cause of recessive congenital methemoglobinemia (RCM) Type-II. It is associated with the mild cyanosis and mental retardation. We have identified three new patients with RCM type-II due to NADH-cytb5r deficiency due and also offered the prenatal diagnosis. All three index cases had cyanosis with severe progressive neurological dysfunction. Methemoglobin level was found in the range of 34.0% to 65% and red blood cell NADH-cytb5r activity were detected only 5 to 30% of normal. The clinical pictures were very similar in all three cases, with severe encephalopathy, microcephaly, generalized dystonia, movement disorders and severe cyanosis. The neurological prognoses are poor; in particular, all the patients do not walk or speak. DNA sequencing result identified two novel mutations. In the first case identified homozygous 2-bp deletion in exon 7 of the CYB5R3 gene, noted as c.604_605delCT (p.Thr202SerfsX98) and in the second case also discovered frame shift homozygous 3-bp deletion mutations (c.766_768delGAG) in exon 9 result in loss of Glutamic acid at codon 256. Third cases showed splice site homozygous mutation (p.Gly76Ser) first time associated with RCM II. Prenatal diagnosis of the fetus in this family revealed same homozygous mutation p.Gly76Ser.

journal of medical science and clinical research

Two Novel C-Terminal Frame shift Mutations in the CYB5R3 Gene Lead to Global Growth and Developmental Delay Associated with Recessive Congenital Methemoglobinemia Type II