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Fig. 2 | Italian Journal of Pediatrics

Fig. 2

From: A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Fig. 2

Molecular characterization of ADSL mutations. a Schematic representation of the ADSL transcript (ENST0000062306) with positions of the two mutations identified by WES. b Electropherograms showing the missense c.926G > A, p.R309H, and splice site c.1191 + 5G > C mutations (indicated with red arrows) occurring in trans in the proband. On the right side of the panel the family tree and segregation are shown.c Multiple sequence alignment of the human ADSL sequence of the region encompassing the disease-associated amino acid change (red arrow) with its orthologues. Arg309 is evolutionarily conserved among vertebrates. d Schematic representation of proper and aberrant splicing of ADSL exons 11 (black box) and 12 (red box). In the presence of the c.1191 + 5G > C change, the normal splice donor site is no longer recognized and an alternative cryptic splice donor site is used instead, resulting in loss of the distal sequence of exon 11, and in a frameshift causing a premature stop of translation

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