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A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.

Abstract Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the neuromuscular junction caused by compromised synaptic transmission. Clinical features include early-onset weakness of limbs and oculobulbar muscles resulting in hypotonia, bulbar paresis, ptosis, and hypoventilation. The first dropped head syndrome in children were detected in 2 patients with LMNA and SEPN1 mutations. We report a 17-month-old boy with dropped head and limb-girdle weakness, who had no ptosis or ophthalmoplegia at presentation. We performed whole exome sequencing, which revealed a homozygous missense variant in the AGRN gene c.5023G>A, p.Gly1675Ser in the LG2 domain, which is predicted to be likely disease causing by in silico tools. Agrin is known to play a critical role in the development and maintenance of the neuromuscular junction. Agrin-related CMS is one of the rarest subtypes. Of note, our patient is the first described patient with agrin-related CMS with dropped head phenotype.
PMID
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Authors

Mayor MeshTerms

Mutation, Missense

Keywords
Journal Title journal of clinical neuromuscular disease
Publication Year Start

 



PMID- 28221305
OWN - NLM
STAT- MEDLINE
DA  - 20170221
DCOM- 20170313
LR  - 20170321
IS  - 1537-1611 (Electronic)
IS  - 1522-0443 (Linking)
VI  - 18
IP  - 3
DP  - 2017 Mar
TI  - A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome
      Presenting With Head Drop.
PG  - 147-151
LID - 10.1097/CND.0000000000000132 [doi]
AB  - Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of
      the neuromuscular junction caused by compromised synaptic transmission. Clinical 
      features include early-onset weakness of limbs and oculobulbar muscles resulting 
      in hypotonia, bulbar paresis, ptosis, and hypoventilation. The first dropped head
      syndrome in children were detected in 2 patients with LMNA and SEPN1 mutations.
      We report a 17-month-old boy with dropped head and limb-girdle weakness, who had 
      no ptosis or ophthalmoplegia at presentation. We performed whole exome
      sequencing, which revealed a homozygous missense variant in the AGRN gene
      c.5023G>A, p.Gly1675Ser in the LG2 domain, which is predicted to be likely
      disease causing by in silico tools. Agrin is known to play a critical role in the
      development and maintenance of the neuromuscular junction. Agrin-related CMS is
      one of the rarest subtypes. Of note, our patient is the first described patient
      with agrin-related CMS with dropped head phenotype.
FAU - Karakaya, Mert
AU  - Karakaya M
AD  - *Pediatric Neurology Unit, Hacettepe University School of Medicine, Ankara,
      Turkey; and daggerDivision of Genetics and Genomics, The Manton Center for Orphan
      Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.
FAU - Ceyhan-Birsoy, Ozge
AU  - Ceyhan-Birsoy O
FAU - Beggs, Alan H
AU  - Beggs AH
FAU - Topaloglu, Haluk
AU  - Topaloglu H
LA  - eng
GR  - P30 HD018655/HD/NICHD NIH HHS/United States
GR  - U54 HD090255/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Clin Neuromuscul Dis
JT  - Journal of clinical neuromuscular disease
JID - 100887391
RN  - 0 (Agrin)
SB  - IM
MH  - Agrin/*genetics
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Exome
MH  - Humans
MH  - Infant
MH  - Male
MH  - *Mutation, Missense
MH  - Myasthenic Syndromes, Congenital/*genetics
EDAT- 2017/02/22 06:00
MHDA- 2017/03/14 06:00
CRDT- 2017/02/22 06:00
AID - 10.1097/CND.0000000000000132 [doi]
AID - 00131402-201703000-00005 [pii]
PST - ppublish
SO  - J Clin Neuromuscul Dis. 2017 Mar;18(3):147-151. doi:
      10.1097/CND.0000000000000132.

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