Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
The disorder comprising Macrocephaly, Alopecia, Cutis laxa, and Scoliosis has been designated MACS syndrome. It is a rare condition, inherited in an autosomal recessive pattern. Three families from different ethnic origins have so far been reported and were all linked to homozygous mutations in RIN2, a gene encoding the Ras and Rab interactor 2 protein involved in cell trafficking. We describe herein the fourth family with MACS syndrome in two siblings carrying a novel homozygous mutation, c.1878_1879insC in exon 8 of the RIN2 gene, which predicts p.Ile627Hisfs*7. We also report on additional findings not previously described in MACS syndrome, including bronchiectasis and hypergonadotropic hypogonadism. Finally, our overall data support the argument that RIN2 syndrome is a more appropriate name for the disorder.
Medical Genetics Unit, Kocaeli Derince Research and Education Hospital, Kocaeli, Turkey.
Ayca D
AD
Aslanger
Umut
U
Altunoglu
Emre
E
Aslanger
Bilge N
BN
Satkın
Zehra Oya
ZO
Uyguner
Hülya
H
Kayserili
D000328:Adult; D000505:Alopecia / Q000175:diagnosis* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D003483:Cutis Laxa / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D023061:Gene Order; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012600:Scoliosis / Q000175:diagnosis* / Q000235:genetics*; D035781:Siblings; D013577:Syndrome; D055815:Young Adult
D002352:Carrier Proteins; D020662:Guanine Nucleotide Exchange Factors; C447829:RIN2 protein, human
Ehlers-Danlos-like syndromes; MACS/RIN2 syndrome; RIN2; cutis laxa-like syndromes