Multiple sulfatase deficiency with neonatal manifestation

被引：12

作者：

Garavelli, Livia ^{[1
]}

Santoro, Lucia ^{[2
]}

Iori, Alexandra ^{[1
,3
]}

Gargano, Giancarlo ^{[4
]}

Braibanti, Silvia ^{[4
]}

Pedori, Simona ^{[4
]}

Melli, Nives ^{[4
]}

Frattini, Daniele ^{[5
]}

Zampini, Lucia ^{[2
]}

Galeazzi, Tiziana ^{[2
]}

Padella, Lucia ^{[2
]}

Pepe, Stefano ^{[6
]}

Wischmeijer, Anita ^{[1
,7
]}

Rosato, Simonetta ^{[1
]}

Ivanovski, Ivan ^{[1
]}

Iughetti, Lorenzo ^{[3
]}

Gelmini, Chiara ^{[1
]}

Bernasconi, Sergio ^{[8
]}

Superti-Furga, Andrea ^{[9
]}

Ballabio, Andrea ^{[6
,10
,11
,12
]}

Gabrielli, Orazio ^{[2
]}

机构：

[1] Arcispedale Santa Maria Nuova, Ist Ricovero & Cura Carattere Sci, Obstet & Pediat Dept, Clin Genet Unit, Reggio Emilia, Italy

[2] UNIVPM, Pediat Unit, Ancona, Italy

[3] Univ Modena & Reggio Emilia, Dept Med & Surg Sci Childhood & Adult, Modena, Italy

[4] Arcispedale Santa Maria Nuova, Ist Ricovero & Cura Carattere Sci, Obstet & Pediat Dept, Neonatal Intens Care Unit, Reggio Emilia, Italy

[5] Arcispedale Santa Maria Nuova, Ist Ricovero & Cura Carattere Sci, Obstet & Pediat Dept, Pediat Neurol Unit, Reggio Emilia, Italy

[6] Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy

[7] Univ Bologna, Dept Med Genet, Policlin St Orsola Malpighi, Bologna, Italy

[8] Univ Parma, Dept Pediat, I-43100 Parma, Italy

[9] Univ Lausanne, Dept Pediat, Ctr Hosp Univ Vaudois, Lausanne, Switzerland

[10] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[11] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA

[12] Univ Naples Federico II, Dept Translat Med, I-80131 Naples, Italy

来源：

ITALIAN JOURNAL OF PEDIATRICS | 2014年 / 40卷

关键词：

Multiple sulfatase deficiency; MSD; SUMF1; gene; FORMYLGLYCINE GENERATING ENZYME; SUMF1; MUTATIONS;

D O I：

10.1186/s13052-014-0086-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p. S64X and c. 818A > G; p. D273G).

引用

页数：4

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