open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, Nicolett

Boaretto, Francesca

Bukvic, Dragoslav

Bukvic, Nenad

Lovaglio, Rosaura

Loverro, Giuseppe

Mostaciuollo, Maria Luisa

Patruno, Margherita

Resta, Nicoletta

Starcevic, Srdjan

Susca, Francesco C.

Vazza, Giovanni

Genetika

English

In middle 90?s the scientific community classified as CRASH syndrome a
   clinical situation characterized by Corpus callosum hypoplasia, Retardation,
   Adducted thumbs, Spastic paraplegia, and Hydrocephalus. This pathology is
   also known as L1 syndrome and includes a spectrum of related neurological
   disorders with an X-linked recessive mode of inheritance associated to
   mutations in the human L1 Cell Adhesion Molecule gene (L1CAM;OMIM 308840).
   Here we report regarding a couple pass through our Genetic Counseling, during
   clinical diagnostic procedure in ~3 years old son, due to presence of
   multiple malformations such as hydrocephalus, agenesis of corpus callosum,
   tetraparesys, axial hypotony, cognitive and motor incompetency. The proband
   was the first male child of a healthy, non-consanguineous Italian couple with
   no family history of brain abnormalities, recurrent miscarriages, other birth
   defects and/or genetic illnesses. During Genetic Counseling, a diagnostic
   hypothesis of L1 syndrome was made, with in deep explanation of genetic
   testing possibilities. On the basis of our protocol, we fixed another
   appointment 2 weeks later, but unfortunately the family never showed up.
   Approximately one year later, the Department of Gynecology and Obstetrics
   requested Genetic Counseling for a 33 years old woman, secondigravida (22?
   gestation week), with abnormal ultrasound findings showing severe fetal
   ventriculomegaly. The family history was unremarkable with no consanguinity;
   she was one of two sisters and had a healthy brother. Surprisingly the woman
   was the mother of our proband. On the basis of a diagnostic hypothesis of L1
   syndrome (includes a spectrum of related neurological disorders with an
   X-linked recessive mode of inheritance), we performed molecular analysis on
   the proband?s DNA, mother?s DNA and fetal DNA. The mutational screening
   revealed the presence of a non sense c.2701C&gt;T (p.Arg901</jats:p

Nenad Bukvic

Francesca Boaretto

Giuseppe Loverro

Francesco Susca

Rosaura Lovaglio

Margherita Patruno

Dragoslav Bukvic

Srdjan Starcevic

Giovanni Vazza

Maria Mostaciuollo

Nicoletta Resta

Crossref

Familly with two different cases of post- and pre-natal l1 syndrome: When hydrocephaly become “multidisciplinary headache”

BOARETTO, FRANCESCA

VAZZA, GIOVANNI

Archivio istituzionale della ricerca - Università di Padova

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache"

In middle 90's the scientific community classified as CRASH syndrome a clinical situation characterized by Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus. This pathology is also known as L1 syndrome and includes a spectrum of related neurological disorders with an X-linked recessive mode of inheritance associated to mutations in the human L1 Cell Adhesion Molecule gene (L1CAM;OMIM 308840). Here we report regarding a couple pass through our Genetic Counseling, during clinical diagnostic procedure in ~3 years old son, due to presence of multiple malformations such as hydrocephalus, agenesis of corpus callosum, tetraparesys, axial hypotony, cognitive and motor incompetency. The proband was the first male child of a healthy, non-consanguineous Italian couple with no family history of brain abnormalities, recurrent miscarriages, other birth defects and/or genetic illnesses. During Genetic Counseling, a diagnostic hypothesis of L1 syndrome was made, with in deep explanation of genetic testing possibilities. On the basis of our protocol, we fixed another appointment 2 weeks later, but unfortunately the family never showed up. Approximately one year later, the Department of Gynecology and Obstetrics requested Genetic Counseling for a 33 years old woman, secondigravida (22° gestation week), with abnormal ultrasound findings showing severe fetal ventriculomegaly. The family history was unremarkable with no consanguinity; she was one of two sisters and had a healthy brother. Surprisingly the woman was the mother of our proband. On the basis of a diagnostic hypothesis of L1 syndrome (includes a spectrum of related neurological disorders with an X-linked recessive mode of inheritance), we performed molecular analysis on the proband's DNA, mother's DNA and fetal DNA. The mutational screening revealed the presence of a non sense c.2701C &gt; T (p.Arg901*) mutation in the exon 20 of the L1CAM gene in all the tested DNA samples. This observation underline a necessity to consider L1-syndrome as potential part of differential diagnosis in all cases of hydrocephaly, same as undoubting of importance of genetic counseling with subsequent, extension of the molecular analysis to the relatives in order to provide an effective and reliable counseling and risk assessment to these families. Finally, the development of new analytical tools [primarily next generation sequencing (NGS)] and development of an assay/gene panel can be used to specifically target a L1 Syndrome for fast, reliable and high quality results in tricky clinical situation like this one

Archivio istituzionale della ricerca - Università di Bari

https://www.research.unipd.it/bitstream/11577/3214643/1/2016_%20GENETIKA_L1CAM%20%20Bukvic%20et%20al..pdf

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache"

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Archivio istituzionale della ricerca - Università di Padova

Archivio istituzionale della ricerca - Università di Bari