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Abstract Details

Pitt Hopkins-Like Syndrome 1 with novel CNTNAP2 mutation in siblings
Child Neurology and Developmental Neurology
Child Neurology and Developmental Neurology Posters (7:00 AM-5:00 PM)
049
To report two siblings with novel compound heterozygous mutations in the CNTNAP2 gene causing Pitt Hopkins-like syndrome 1 (PHLS1).
Pitt Hopkins-like syndrome 1 (PHLS1) is an ultra-rare autosomal recessive condition with a prevalence of less than one in one million. It is caused by homozygous or compound heterozygous mutations in the CNTNAP2 gene. Intragenic deletions of CNTNAP2 have been implicated in many neurodevelopmental disorders however to our knowledge, a deletion of exon 4 and a c.1977_1989del13; p.V660Ffsx9 variant have not been published previously.
Case report

The proband is a six year old female with PHLS1, developmental delay, ASD, focal epilepsy, and mild obstructive sleep apnea. Whole exome sequencing analysis revealed compound heterozygous mutations of the CNTNAP2 gene. She inherited a deletion of exon 4 from her father and a c.1977_1989del13 variant from her mother.

Proband has a three year old sister who has PHLS1, developmental delay, epilepsy, motor delay, gait abnormality, and hyporeflexia. Sequencing revealed that she shares the same CNTNAP2 deletion of exon 4 and c1977_1989del13 variant as her sister. Additionally, she inherited a duplication of cytogenic 17p12 which holds the PMP22 gene from her mother. This duplication is seen in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and might explain the proband sister’s signs of motor delay, gait abnormality, and hyporeflexia. The patient’s mother was recommended for her own evaluation of CMT1A.
To our knowledge, PHLS1 caused by CNTNAP2 has not been described in the siblings. The sisters described also highlight two novel compound heterozygote mutations leading to PHLS1.
Authors/Disclosures
Rea Mittal, MD
PRESENTER 		Miss Mittal has nothing to disclose.
Ermal Aliu No disclosure on file
Gayatra Mainali, MD (Penn State Health) Dr. Mainali has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Origin Biosciences.
No disclosure on file
Ashutosh Kumar, MD (Penn State Health) Dr. Kumar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for PTC therapeutics. Dr. Kumar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sarepta. Dr. Kumar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Kumar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Kumar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis. Dr. Kumar has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for PTC therapeutics. Dr. Kumar has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for American Academy of Pediatrics. The institution of Dr. Kumar has received research support from PTC therapeutics. The institution of Dr. Kumar has received research support from Sarepta Therapeutics. The institution of Dr. Kumar has received research support from Novartis/Avexis. The institution of Dr. Kumar has received research support from Fibrogen . The institution of Dr. Kumar has received research support from Biohaven. The institution of Dr. Kumar has received research support from Genentech. The institution of Dr. Kumar has received research support from MDA. Dr. Kumar has received personal compensation in the range of $500-$4,999 for serving as a Draft Report Reviewer/consultant with ECRI/Atheneum/QTC commercial services LLC/Connected Research and consulting/Vox.Bio.