CLMP基因新变异致同胞姐弟先天性短肠综合征合并肠旋转不良

A pair of siblings with congenital short bowel syndrome and intestinal malrotation caused by a novel variation in the CLMP gene

本文报道一对先天性短肠综合征(congenital short-bowel syndrome,CSBS)合并肠旋转不良的姐弟。病例1出生体重2550 g,身长48 cm,2017年9月10日生后23 d因肠梗阻于厦门大学附属妇女儿童医院急诊行“Ladd's术及阑尾切除术”,小肠全长65 cm,术后予肠内、外联合营养支持6个月。全外显子组测序提示CLMP基因(chr11:122953792-122955421)纯合变异(NM 024769;核酸缺失外显子3~5),父母均无相关表型且均为杂合携带。病例2为病例1之弟,2020年3月20日在本院出生,出生体重2932 g,身长49 cm;产前羊水单基因测序检出与姐姐一致的基因变异。生后第2天行“Ladd's术及阑尾切除术”,小肠51 cm。术后6个月实现肠内营养。分别随访至12个月,病例1体重和身高均<P 1,病例2体重8.03 kg(P 3~P 5),身高76.0 cm(P 25~P 50)。

This paper reports a pair of siblings with congenital short-bowel syndrome(CSBS)complicated with intestinal malrotation.Case 1 was born with a birth weight of 2550 g and a length of 48 cm.On September 10,2017,emergency Ladd's procedure and appendectomy were performed on the infant 23 days after birth due to intestinal obstruction at the Women and Children's Hospital,School of Medicine,Xiamen University.The small intestine of the infant had a total length of 65 cm.Postoperative enteral and parenteral nutrition supports were provided for six months.Whole exome sequencing revealed a homozygous variant(NM 024769;nucleotide deletion in the exon 3-5)in the CLMP gene(chr11:122953792-122955421),with the parents being the heterozygous carriers but without phenotype.Case 2,the younger sibling of Case 1,was born in the same hospital on March 20,2020,with a birth weight of 2932 g and a body length of 49 cm.Prenatal single-gene sequencing on the amniotic fluid identified the same gene variation as his sister's.The baby boy received Ladd's procedure and appendectomy on the second day after birth which found the length of his small intestine was 51 cm.Full enteral nutrition was achieved six months after the operation.Both cases were followed up for 12 months.The body weight and length of Case 1 were both below the first percentile(<P 1).The body weight of Case 2 was 8.03 kg(P 3-P 5)and the length was 76.0 cm(P 25-P 50).