PMID- 25720518
OWN - NLM
STAT- MEDLINE
DCOM- 20160408
LR  - 20221207
IS  - 1573-7365 (Electronic)
IS  - 0885-7490 (Linking)
VI  - 30
IP  - 4
DP  - 2015 Aug
TI  - Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two 
      unrelated Chinese families.
PG  - 989-97
LID - 10.1007/s11011-015-9660-6 [doi]
AB  - The carbonic anhydrase II (CAII) deficiency syndrome is a rare autosomal 
      recessive osteopetrosis with renal tubular acidosis (RTA) and cerebral 
      calcifications (MIM259730). CAII deficiency syndrome is caused by mutations in 
      the gene CAII, which encodes the enzyme carbonic anhydrase II. CAII mutations are 
      rarely reported in the Asian population. Here, we described two unrelated CAII 
      deficiency families of Chinese Han origin with clinical and genetic analysis. 
      Altogether, 106 subjects, including 2 probands, 4 unaffected family members from 
      two non-consanguineous Chinese families, and 100 healthy controls were recruited. 
      All seven exons and the exon-intron boundaries of the CAII gene were amplified 
      and directly sequenced. Reverse transcription PCR (RT-PCR) was used to study the 
      effect of splice site mutation. All clinical and biochemical parameters of the 
      probands were collected. Two novel mutations of CAII gene were identified by 
      mutational analysis: A nonsense mutation in exon 4 (c.T381C p.Y127X) in both 
      families; a splice mutation at the splice donor site of intron 3 (c.350+2T>C, 
      IVS3+2T>C) in one family. The splice-site mutation causes exon 3 skipping in 
      patient's mRNA resulting in an in-frame deletion and a novel premature stop 
      codon. These mutations were predicted to result in a loss of function of CAII. 
      This is the first report of CAII deficiency syndrome in Chinese population. Our 
      findings extent the spectrum of CAII mutations observed in patients with CAII 
      deficiency syndrome.
FAU - Pang, Qianqian
AU  - Pang Q
AD  - Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of 
      Health, Peking Union Medical College Hospital, Chinese Academy of Medical 
      Sciences, Beijing, 100730, China.
FAU - Qi, Xuan
AU  - Qi X
FAU - Jiang, Yan
AU  - Jiang Y
FAU - Wang, Ou
AU  - Wang O
FAU - Li, Mei
AU  - Li M
FAU - Xing, Xiaoping
AU  - Xing X
FAU - Dong, Jin
AU  - Dong J
FAU - Xia, Weibo
AU  - Xia W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150227
PL  - United States
TA  - Metab Brain Dis
JT  - Metabolic brain disease
JID - 8610370
RN  - EC 4.2.1.- (Carbonic Anhydrase II)
RN  - EC 4.2.1.1 (Carbonic Anhydrases)
RN  - Osteopetrosis with renal tubular acidosis
SB  - IM
MH  - Acidosis, Renal Tubular/*diagnosis/*genetics
MH  - Adolescent
MH  - Asian People/*genetics
MH  - Carbonic Anhydrase II/chemistry/*genetics
MH  - Carbonic Anhydrases/*deficiency/genetics
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Osteopetrosis/*diagnosis/*genetics
MH  - Pedigree
MH  - Protein Structure, Secondary
MH  - Urea Cycle Disorders, Inborn/*diagnosis/*genetics
EDAT- 2015/02/28 06:00
MHDA- 2016/04/09 06:00
CRDT- 2015/02/28 06:00
PHST- 2014/12/11 00:00 [received]
PHST- 2015/02/17 00:00 [accepted]
PHST- 2015/02/28 06:00 [entrez]
PHST- 2015/02/28 06:00 [pubmed]
PHST- 2016/04/09 06:00 [medline]
AID - 10.1007/s11011-015-9660-6 [doi]
PST - ppublish
SO  - Metab Brain Dis. 2015 Aug;30(4):989-97. doi: 10.1007/s11011-015-9660-6. Epub 2015 
      Feb 27.